ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA139444
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000040162
RCV000475442
RCV000725354
RCV002433511
ClinVar Variation:
46892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Met1001Arg
CA139441
NM_001256850.1:c.3002T>G